Detalhe da pesquisa
1.
Safety and preliminary efficacy on cognitive performance and adaptive functionality of epigallocatechin gallate (EGCG) in children with Down syndrome. A randomized phase Ib clinical trial (PERSEUS study).
Genet Med
; 24(10): 2004-2013, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35951014
2.
Psychomotor development in infants and young children with Down syndrome-A prospective, repeated measure, post-hoc analysis.
Am J Med Genet A
; 188(3): 818-827, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863019
3.
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.
J Clin Immunol
; 40(6): 807-819, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32572726
4.
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Genet Med
; 22(1): 44-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31281181
5.
Growth curves for French people with Down syndrome from birth to 20 years of age.
Am J Med Genet A
; 176(12): 2685-2694, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569664
6.
[Genetics, diagnosis and characteristics of trisomy 21]. / Génétique, diagnostic et caractéristiques de la trisomie 21.
Soins Pediatr Pueric
; 39(302): 10-14, 2018.
Artigo
em Francês
| MEDLINE | ID: mdl-29747764
7.
Anthropometric charts and congenital anomalies in newborns with Down syndrome.
Am J Med Genet A
; 173(8): 2166-2175, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574650
8.
Prevalence and Description of Hidradenitis Suppurativa in Down Syndrome: A Cross-sectional Study of 783 Subjects.
Acta Derm Venereol
; 99(3): 351-352, 2019 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30460373
9.
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Am J Med Genet A
; 155A(4): 880-4, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21416592
10.
Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer.
Sci Rep
; 10(1): 9447, 2020 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32523132
11.
The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome.
Genet Med
; 11(9): 611-6, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19636252
12.
Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation.
Clin Epigenetics
; 11(1): 195, 2019 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843015
13.
Catatonia in Down's syndrome: An under-recognized syndrome during regression.
Schizophr Res
; 261: 107-109, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37716203
14.
Pulmonary hemosiderosis in children with Down syndrome: a national experience.
Orphanet J Rare Dis
; 13(1): 60, 2018 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29678139
15.
Acute Regression in Young People with Down Syndrome.
Brain Sci
; 7(6)2017 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28555009
16.
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Eur J Hum Genet
; 23(8): 1010-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25351778
17.
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
Eur J Hum Genet
; 21(11): 1253-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23422941
18.
Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.
PLoS One
; 7(8): e41616, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22912673
19.
Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status.
PLoS One
; 5(1): e8394, 2010 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20084109